一名囊性纤维化患者，其CFTR调节域的移码突变纯合子，肺部疾病较轻，但肝脏疾病严重。 - Suppr

Suppr

超能文献

Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.

作者信息

Lissens W, Desmyttere S, Bonduelle M, Dab I, Liebaers I, Mercier B, Audrezet M P, Ferec C

出版信息

J Med Genet. 1993 May;30(5):446. doi: 10.1136/jmg.30.5.446.

DOI:10.1136/jmg.30.5.446

PMID:7686577

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016403/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/707c/1016403/c2c56ebf5465/jmedgene00007-0096-a.jpg

相似文献

Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.一名囊性纤维化患者，其CFTR调节域的移码突变纯合子，肺部疾病较轻，但肝脏疾病严重。

J Med Genet. 1993 May;30(5):446. doi: 10.1136/jmg.30.5.446.

Novel frameshift mutation in exon 4 of CFTR gene.

Hum Mutat. 1995;5(2):184-5. doi: 10.1002/humu.1380050215.

Coincidental CFTR mutation and Sjögren syndrome revealing a pancreatic disease.

Pancreas. 2007 Jul;35(1):94-5. doi: 10.1097/MPA.0b013e318053eaf4.

Patterns of GI disease in adulthood associated with mutations in the CFTR gene.成年期与囊性纤维化跨膜传导调节因子（CFTR）基因突变相关的胃肠道疾病模式。

Gut. 2007 Aug;56(8):1153-63. doi: 10.1136/gut.2004.062786. Epub 2007 Apr 19.

Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.

Hum Mol Genet. 1994 Nov;3(11):2063-4.

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.9名携带CFTR无义突变R1162X的纯合子囊性纤维化患者患有轻度或中度肺部疾病。

J Med Genet. 1992 Aug;29(8):558-62. doi: 10.1136/jmg.29.8.558.

A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

Hum Mol Genet. 1994 Jun;3(6):1001-2. doi: 10.1093/hmg/3.6.1001.

Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.在囊性纤维化（CFTR）基因第17a外显子中鉴定出一个6碱基对缺失（3195del6）。

Hum Mol Genet. 1994 Feb;3(2):371. doi: 10.1093/hmg/3.2.371.

Animal models of gastrointestinal and liver diseases. Animal models of cystic fibrosis: gastrointestinal, pancreatic, and hepatobiliary disease and pathophysiology.胃肠道和肝脏疾病的动物模型。囊性纤维化的动物模型：胃肠道、胰腺和肝胆疾病及病理生理学。

Am J Physiol Gastrointest Liver Physiol. 2015 Mar 15;308(6):G459-71. doi: 10.1152/ajpgi.00146.2014. Epub 2015 Jan 15.

A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.囊性纤维化跨膜传导调节因子（CFTR）基因第二个跨膜结构域中的移码突变（2869insG）：鉴定、区域分布及临床表现

Am J Hum Genet. 1992 May;50(5):1140-2.

引用本文的文献

Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.两名囊性纤维化（CF）患者，一名为621+1G>T剪接突变纯合子，另一名为1898+1G>A剪接突变纯合子。

J Med Genet. 1995 Feb;32(2):158. doi: 10.1136/jmg.32.2.158.

本文引用的文献

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.两名患有囊性纤维化的患者，每个囊性纤维化基因都存在无义突变，且患有轻度肺部疾病。

N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.患有CF基因G542无义突变纯合子的儿童出现轻度囊性纤维化。

Lancet. 1991 Jul 20;338(8760):189. doi: 10.1016/0140-6736(91)90181-n.

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.一名患有R553X纯合子的囊性纤维化儿童的轻度肺部疾病。

J Med Genet. 1992 Aug;29(8):597. doi: 10.1136/jmg.29.8.597.

J Med Genet. 1992 Aug;29(8):558-62. doi: 10.1136/jmg.29.8.558.

No CFTR: are CF symptoms milder?无囊性纤维化跨膜传导调节因子：囊性纤维化症状会更轻吗？

Nat Genet. 1992 Apr;1(1):10. doi: 10.1038/ng0492-10.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验